Information on CGD1
Basic details
Name: Granulomatous disease, chronic, 1 | Acronym: CGD1
Alt. names:
Gene: NCF1 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 1991
Last updated on: 2023-02-28 16:41:18 by
Description
Surveillance for infections and infectious complications is indicatred, and preventive measures (eg, antibacterial/antifungal prophylaxis, interferon gamma) may be beneficial; To treat fungal infections, specific antifungal drugs may be beneficial, and longer treatment courses (as well as specific considerations including coadministration with corticosteroids) may be indicated in individuals with CGD; In some instances, HSCT may be beneficial; Certain agents should be avoided, including material that would allow fungal spore inhalation. Refs. PMIDs: 5755008; 6848934; 3011845; 3339133; 2770793; 2011585; 11060536; 10706888; 11133775; 16972229; 19329991; 22157170; 22876374; 22924696
Management
Description of management option has not been reviewed yet.
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0 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|
AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical term | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Impaired oxidative burst |
6 (99.9%) | 0 (0.0%) | 0 (0.0%) |
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Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
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